Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.
about
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcriptsExtended phenotypes in a boy and his mother with oto-palato-digital-syndrome type IICardiac malformations and midline skeletal defects in mice lacking filamin A.Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.Recurrence of frontometaphyseal dysplasia in two sisters with a mutation inFLNAand an atypical paternal phenotype: Insights into genotype-phenotype correlationEthics and Health Research: Decision Making in Aotearoa New ZealandOtopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome
P2860
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P2860
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Linkage of otopalatodigital sy ...... idence for allelism with OPD1.
@ast
Linkage of otopalatodigital sy ...... idence for allelism with OPD1.
@en
Linkage of otopalatodigital syndrome type 2
@nl
type
label
Linkage of otopalatodigital sy ...... idence for allelism with OPD1.
@ast
Linkage of otopalatodigital sy ...... idence for allelism with OPD1.
@en
Linkage of otopalatodigital syndrome type 2
@nl
prefLabel
Linkage of otopalatodigital sy ...... idence for allelism with OPD1.
@ast
Linkage of otopalatodigital sy ...... idence for allelism with OPD1.
@en
Linkage of otopalatodigital syndrome type 2
@nl
P2093
P2860
P356
P1476
Linkage of otopalatodigital sy ...... vidence for allelism with OPD1
@en
P2093
P2860
P304
P356
10.1086/321280
P407
P577
2001-06-06T00:00:00Z